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JAMA Neurology|May 31, 2017
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive DystoniaKatja Lohmann, Claire Redin, Holger Tönnies, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 25, 2004
Distribution, type, and origin of Parkin mutations: review and case studiesKatja Hedrich, Cordula Eskelson, Beth Wilmot, et al.Nature Genetics|March 1, 2005
Sarcoidosis is associated with a truncating splice site mutation in BTNL2Ruta Valentonyte, Jochen Hampe, Klaus Huse, et al.Annals of Neurology|October 29, 2002
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutationsChristine Klein, Liu Liu, Dana Doheny, et al.European Journal of Human Genetics : EJHG|September 16, 2004
An excess of chromosome 1 breakpoints in male infertilityIben Bache, Elvire Van Assche, Sultan Cingoz, et al.Pageof 4